Linked Data
ClinVar Variation Id:
375671
ClinVar RCV Id:
RCV000417137
dbSNP Id:
rs1057519601
MyVariant Identifiers:
chr17:g.18075078delinsCCAGGCCCGTGCAGCTC (hg19)
chr17:g.18171764delinsCCAGGCCCGTGCAGCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18171764delinsCCAGGCCCGTGCAGCTC , CM000679.2:g.18171764delinsCCAGGCCCGTGCAGCTC | GRCh38 |
| NC_000017.10:g.18075078delinsCCAGGCCCGTGCAGCTC , CM000679.1:g.18075078delinsCCAGGCCCGTGCAGCTC | GRCh37 |
| NC_000017.9:g.18015803delinsCCAGGCCCGTGCAGCTC | NCBI36 |
| NG_011634.1:g.68059delinsCCAGGCCCGTGCAGCTC | |
| NG_011634.2:g.68059delinsCCAGGCCCGTGCAGCTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642418.1:n.2613delinsCCAGGCCCGTGCAGCTC | ||
| ENST00000643693.1:n.2151delinsCCAGGCCCGTGCAGCTC | ||
| ENST00000644795.1:c.2001delinsCCAGGCCCGTGCAGCTC | ENSP00000495720.1:p.Gln667HisfsTer? | |
| ENST00000646782.1:n.2943delinsCCAGGCCCGTGCAGCTC | ||
| ENST00000647165.2:c.10209delinsCCAGGCCCGTGCAGCTC MANE Select | ENSP00000495481.1:p.Gln3403HisfsTer? | |
| ENST00000651214.1:n.2640delinsCCAGGCCCGTGCAGCTC | ||
| ENST00000205890.9:c.10209delinsCCAGGCCCGTGCAGCTC | ENSP00000205890.5:p.Gln3403HisfsTer? | |
| ENST00000418233.7:c.2001delinsCCAGGCCCGTGCAGCTC | ENSP00000408800.3:p.Gln667HisfsTer? | |
| ENST00000433411.7:n.1659delinsCCAGGCCCGTGCAGCTC | ||
| ENST00000445289.6:n.978delinsCCAGGCCCGTGCAGCTC | ||
| ENST00000578575.1:c.751delinsCCAGGCCCGTGCAGCTC | ||
| ENST00000579848.6:c.629delinsCCAGGCCCGTGCAGCTC | ENSP00000465910.1:p.Ser210ThrfsTer? | |
| ENST00000615845.4:c.10209delinsCCAGGCCCGTGCAGCTC | ENSP00000481642.1:p.Gln3403HisfsTer? | |
| NM_016239.3:c.10209delinsCCAGGCCCGTGCAGCTC | NP_057323.3:p.Gln3403HisfsTer? | |
| XM_011523921.1:c.10203delinsCCAGGCCCGTGCAGCTC | XP_011522223.1:p.Gln3401HisfsTer? | |
| XM_017024714.2:c.10149delinsCCAGGCCCGTGCAGCTC | XP_016880203.1:p.Gln3383HisfsTer? | |
| XM_017024715.2:c.10212delinsCCAGGCCCGTGCAGCTC | XP_016880204.1:p.Gln3404HisfsTer? | |
| NM_016239.4:c.10209delinsCCAGGCCCGTGCAGCTC MANE Select | NP_057323.3:p.Gln3403HisfsTer? |